QIAGEN Bioinformatics Continues to Set the Standard With Hereditary
Disease Solution

BARCELONA, Spain--(BUSINESS WIRE)--QIAGEN today announced two milestones in its delivery of solutions for
clinical analysis and interpretation of hereditary diseases with whole
exome and genome data.

Beginning this month, pipeline scripts that implement the Broad
Institute’s GATK best practices — a widely-used solution for variant
calling — can be easily used in QIAGEN’s Biomedical Genomics Workbench
with its Biomedical Genomics Server Solutions. This combination forms
part of QIAGEN’s Hereditary Disease Solution. In addition, the
variant-interpretation capabilities of QIAGEN’s Hereditary Disease
Solution were assessed at the recent Critical Assessment of Genome
Interpretation (CAGI) 4 event for clinical accuracy using the clinical
panel in the Johns Hopkins Challenge. The Company will be showcasing
these advances and its extensive portfolio of software solutions at the
European Human Genetics Conference in Barcelona, May 21-24.

Widely enabling GATK best practices without technical or
bioinformatics skills

QIAGEN’s plugin for GATK incorporation and pipeline scripts expand
access to the GATK best practices for exomes and whole genome variant
analysis for single samples within its Biomedical Genomics Workbench.
Requiring no advanced bioinformatics skills, this configuration allows
clinical researchers and clinicians to:

Run GATK according to the best practices recommended by the Broad
Institute for whole exome sequencing or whole genome sequencing in
combination with Ingenuity Variant Analysis as an end-to end variant
calling and interpretation workflow from the workbench;

Combine GATK results with variants called using CLC variant-calling
pipelines to identify variants missed previously; and

Visualize and validate results without importing VCF and BAM files
within a single product.

“The Broad’s GATK pipeline is a community standard, and is cited in more
than 90 percent of papers,” said Michael Barmada, Associate Professor
Human Genetics, Director at the Center for Computational Genetics,
University of Pittsburgh. “I am very excited that GATK is now integrated
into the Biomedical Genomics Workbench, making it as easily accessible
as the other tools provided by QIAGEN. This signifies an expanding
commitment to clinical researchers and clinicians who want to quickly
and comprehensively call variants and create interpretation workflows
with community-standard tools in an easy-to-use environment.”

The QIAGEN Bioinformatics Hereditary Disease Solution for exomes,
genomes, and large gene panels performed best in clinical accuracy at
the CAGI 4 conference for the second consecutive year. For the
challenge, each participant was provided variant calls for 83 genes from
a cohort of 106 patients with a range of clinical presentations and
tested for assignment of patients to their correct disease class. Dr.
Sohela Shah, Principal Genome Scientist for Advanced Clinical Testing at
QIAGEN Bioinformatics, demonstrated the variant interpretation
capabilities of QIAGEN’s Hereditary Disease Solution and its
extensibility for whole exome and genome analysis.

“We are excited to have participated in this study and to demonstrate
our superior capabilities for variant interpretation,” said Dr. Michael
Hadjisavas, VP of Clinical Genomics Program, QIAGEN Bioinformatics. “Our
capabilities and investments in developing these solutions will become
increasingly relevant as the research and clinical community scales from
panels to exomes and ultimately to whole genomes for personalized
medicine. This trend will continue to demand the use of our highly
sophisticated computational solutions with the perpetually curated
QIAGEN Knowledge Base to predict phenotypic impacts of genomic
variation. CAGI 4 was an ideal showcase for these capabilities within
our Hereditary Disease Solution.”

QIAGEN Bioinformatics’ ESHG 2016 activities

In addition to these recent industry milestones, QIAGEN Bioinformatics
will have a sustained presence at ESHG, with a booth (#550/552) and a
number of featured speakers at our satellite meeting. For details about
our presence at ESHG, please see our recent blog
post.

About QIAGEN

QIAGEN N.V., a Netherlands-based holding company, is the leading global
provider of Sample to Insight solutions to transform biological
materials into valuable molecular insights. QIAGEN sample technologies
isolate and process DNA, RNA and proteins from blood, tissue and other
materials. Assay technologies make these biomolecules visible and ready
for analysis. Bioinformatics software and knowledge bases interpret data
to report relevant, actionable insights. Automation solutions tie these
together in seamless and cost-effective molecular testing workflows.
QIAGEN provides these workflows to more than 500,000 customers around
the world in Molecular Diagnostics (human healthcare), Applied Testing
(forensics, veterinary testing and food safety), Pharma (pharmaceutical
and biotechnology companies) and Academia (life sciences research). As
of March 31, 2016, QIAGEN employed approximately 4,600 people in over 35
locations worldwide. Further information can be found at http://www.qiagen.com.

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